Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6018397_6018423del | CA2617229996 | VWF | c.5003_5029del (p.Arg1668_Gln1676del) n.421-24481_421-24455del | gnomAD v4 |
12 | g.6018394A>C | CA383498476 | VWF | c.5024T>G (p.Leu1675Arg) n.421-24460T>G | |
12 | g.6018394A>G | CA383498477 | VWF | c.5024T>C (p.Leu1675Pro) n.421-24460T>C | |
12 | g.6018394A>T | CA383498478 | VWF | c.5024T>A (p.Leu1675Gln) n.421-24460T>A | |
12 | g.6018394_6018395delinsAG | CA2013872494 | VWF | c.5023_5024delinsCT (p.Leu1675=) n.421-24461_421-24460delinsCT | |
12 | g.6018394_6018395delinsTA | CA228698 | VWF | c.5023_5024delinsTA (p.Leu1675Ter) n.421-24461_421-24460delinsTA | ClinVar dbSNP |
12 | g.6018395G>A | CA6402422 | VWF | c.5023C>T (p.Leu1675=) n.421-24461C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018395G>C | CA383498480 | VWF | c.5023C>G (p.Leu1675Val) n.421-24461C>G | |
12 | g.6018395G= | CA2013872495 | VWF | c.5023C= (p.Leu1675=) n.421-24461C= | |
12 | g.6018395G>T | CA383498479 | VWF | c.5023C>A (p.Leu1675Met) n.421-24461C>A | |
12 | g.6018396C>A | CA478493955 | VWF | c.5022G>T (p.Gly1674=) n.421-24462G>T | |
12 | g.6018396C= | CA2013872496 | VWF | c.5022G= (p.Gly1674=) n.421-24462G= | |
12 | g.6018396C>G | CA478493956 | VWF | c.5022G>C (p.Gly1674=) n.421-24462G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018396C>T | CA478493957 | VWF | c.5022G>A (p.Gly1674=) n.421-24462G>A | |
12 | g.6018397C>A | CA383498481 | VWF | c.5021G>T (p.Gly1674Val) n.421-24463G>T | |
12 | g.6018397C>G | CA383498482 | VWF | c.5021G>C (p.Gly1674Ala) n.421-24463G>C | |
12 | g.6018397C>T | CA383498483 | VWF | c.5021G>A (p.Gly1674Glu) n.421-24463G>A | COSMIC |
12 | g.6018398C>A | CA383498484 | VWF | c.5020G>T (p.Gly1674Trp) n.421-24464G>T | |
12 | g.6018398C>G | CA383498485 | VWF | c.5020G>C (p.Gly1674Arg) n.421-24464G>C | |
12 | g.6018398C>T | CA383498486 | VWF | c.5020G>A (p.Gly1674Arg) n.421-24464G>A | gnomAD v4 |
12 | g.6018399C>A | CA383498487 | VWF | c.5019G>T (p.Glu1673Asp) n.421-24465G>T | gnomAD v4 |
12 | g.6018399C= | CA2013872497 | VWF | c.5019G= (p.Glu1673=) n.421-24465G= | |
12 | g.6018399C>G | CA383498488 | VWF | c.5019G>C (p.Glu1673Asp) n.421-24465G>C | |
12 | g.6018399C>T | CA478493958 | VWF | c.5019G>A (p.Glu1673=) n.421-24465G>A | dbSNP |
12 | g.6018400T>A | CA383498489 | VWF | c.5018A>T (p.Glu1673Val) n.421-24466A>T | |
12 | g.6018400T>C | CA383498490 | VWF | c.5018A>G (p.Glu1673Gly) n.421-24466A>G | |
12 | g.6018400T>G | CA383498491 | VWF | c.5018A>C (p.Glu1673Ala) n.421-24466A>C | |
12 | g.6018401C>A | CA383498492 | VWF | c.5017G>T (p.Glu1673Ter) n.421-24467G>T | |
12 | g.6018401C= | CA2013872498 | VWF | c.5017G= (p.Glu1673=) n.421-24467G= | |
12 | g.6018401C>G | CA383498493 | VWF | c.5017G>C (p.Glu1673Gln) n.421-24467G>C | |
12 | g.6018401C>T | CA6402423 | VWF | c.5017G>A (p.Glu1673Lys) n.421-24467G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018402T>A | CA478493961 | VWF | c.5016A>T (p.Gly1672=) n.421-24468A>T | |
12 | g.6018402T>C | CA478493960 | VWF | c.5016A>G (p.Gly1672=) n.421-24468A>G | gnomAD v4 |
12 | g.6018402T>G | CA478493959 | VWF | c.5016A>C (p.Gly1672=) n.421-24468A>C | |
12 | g.6018403C>A | CA383498494 | VWF | c.5015G>T (p.Gly1672Val) n.421-24469G>T | |
12 | g.6018403C>G | CA383498495 | VWF | c.5015G>C (p.Gly1672Ala) n.421-24469G>C | gnomAD v4 |
12 | g.6018403C>T | CA383498496 | VWF | c.5015G>A (p.Gly1672Glu) n.421-24469G>A | gnomAD v4 |
12 | g.6018404C>A | CA383498497 | VWF | c.5014G>T (p.Gly1672Ter) n.421-24470G>T | gnomAD v4 |
12 | g.6018404C= | CA2013872499 | VWF | c.5014G= (p.Gly1672=) n.421-24470G= | |
12 | g.6018404C>G | CA383498498 | VWF | c.5014G>C (p.Gly1672Arg) n.421-24470G>C | |
12 | g.6018404C>T | CA228696 | VWF | c.5014G>A (p.Gly1672Arg) n.421-24470G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018405G>A | CA6402424 | VWF | c.5013C>T (p.Ser1671=) n.421-24471C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018405G>C | CA478493962 | VWF | c.5013C>G (p.Ser1671=) n.421-24471C>G | |
12 | g.6018405G= | CA2013872500 | VWF | c.5013C= (p.Ser1671=) n.421-24471C= | |
12 | g.6018405G>T | CA478493963 | VWF | c.5013C>A (p.Ser1671=) n.421-24471C>A | gnomAD v4 |
12 | g.6018406G>A | CA383498499 | VWF | c.5012C>T (p.Ser1671Phe) n.421-24472C>T | |
12 | g.6018406G>C | CA383498500 | VWF | c.5012C>G (p.Ser1671Cys) n.421-24472C>G | |
12 | g.6018406G>T | CA383498501 | VWF | c.5012C>A (p.Ser1671Tyr) n.421-24472C>A | gnomAD v4 COSMIC |
12 | g.6018407A>C | CA383498502 | VWF | c.5011T>G (p.Ser1671Ala) n.421-24473T>G | |
12 | g.6018407A>G | CA383498503 | VWF | c.5011T>C (p.Ser1671Pro) n.421-24473T>C | gnomAD v4 |